BoBafit : A copy number clustering tool designed to refit and recalibrate the baseline region of tumors' profiles.

ABSTRACT: Human cancer arises from a population of cells that have acquired a wide range of genetic alterations, most of which are targets of therapeutic treatments or are used as prognostic factors for patient's risk stratification. Among these, copy number alterations (CNAs) are quite frequent. Currently, several molecular biology technologies, such as microarrays, NGS and single-cell approaches are used to define the genomic profile of tumor samples. Output data need to be analyzed with bioinformatic approaches and particularly by employing computational algorithms. Molecular biology tools estimate the baseline region by comparing either the mean probe signals, or the number of reads to the reference genome. However, when tumors display complex karyotypes, this type of approach could fail the bas

SUBMITTER: Mazzocchetti G 

PROVIDER: S-EPMC9294200 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature